Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 22-year-old man with cardiac symptoms had been treated for myocarditis for two years. But the clinical course and special tests, including isoenzyme measurements, electromyography, peripheral muscle and myocardial biopsy, established the diagnosis of X chromosome-linked muscular dystrophy (type Becker-Kiener) with an associated cardiomyopathy (raised left-ventricular end-diastolic pressure). Light- and electron-microscopic studies of the (right ventricular) myocardial biopsy revealed degenerative changes like those seen in peripheral muscle.
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PMID:[Myocardial involvement in a special form of Erb's muscular dystrophy (type Becker-Kiener) (author's transl)]. 89

Myocardial infarction (MI), a common occurrence in adults, is generally considered to be rare in children. Electrocardiographic criteria for diagnosis of MI in adults are well known and accepted, but no general criteria exist for children. We report 37 autopsy-proved cases of transmural MI and electrocardiographic evidence of MI in 30 of these cases. A variety of conditions previously reported to produce "pseudo-infarction" are included in these cases of MI, including myocarditis, hypertrophic cardiomyopathy, and the cardiomyopathy of Duchenne's muscular dystrophy. Compilation of the electrocardiographic data in all patients allowed for the development of criteria for this diagnosis of MI in childhood, and include wide Q waves (greater than 35 ms) with or without Q-wave notching, ST-segment elevation (greater than 2 mm), and prolonged QT interval corrected for heart rate (QTc greater than 440 ms) with accompanying Q-wave abnormalities. With use of these electrocardiographic criteria, an additional 3 patients were subsequently diagnosed prospectively with MI and confirmed on autopsy. Pathologic evaluation confirmed the location of infarction predicted by the electrocardiograms in all 3 cases.
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PMID:Electrocardiographic criteria for diagnosis of acute myocardial infarction in childhood. 159 67

Atrial standstill is a rare disorder usually seen in adults with extreme myocardial disease. Etiologies described in the literature have included muscular dystrophy, familial amyloidosis, and rarely myocarditis. These etiologies usually lead to permanent atrial standstill and require ventricular pacing. We present a case of an 11-year-old black female who developed atrial standstill secondary to biopsy proven acute necrotizing myocarditis. Absence of atrial function was confirmed by surface electrocardiogram, echocardiogram, and an invasive electrophysiology study. Atrial function returned within 3 days of initiation of methyl-prednisolone. In cases of atrial standstill due to myocarditis, a delay in the placement of a permanent pacemaker with or without a trial of methylprednisolone may prove beneficial.
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PMID:Resolution of atrial standstill in a child with myocarditis. 750 34

Dilated cardiomyopathy is one of the leading causes of heart failure and a primary cause for heart transplantation in patients below the age of 40 years. Despite major advances in diagnostic procedures such as examination of myocardial biopsies, the etiology remains unknown in many patients. Chronic inflammation or myocarditis and chronic alcohol abuse are considered two main etiologic factors in dilated cardiomyopathy. A third causal factor, namely genetic transmission of the disease, is at least as common as myocardial inflammation or toxic damage. Several prospective studies of relatives of patients with dilated cardiomyopathy proved that about 25-30% of all cases are of familial etiology. The most common mode of inheritance is autosomal dominant. Less frequently is the disease inherited as an X-chromosomal trait. Autosomal recessive and mitochondrial transmission is rare. The penetrance is highly variable and age dependent. Many relatives of patients with DCM show only minor cardiac abnormalities and it is unknown whether they progress to full cardiomyopathy in later life. Examination of families has identified so far eight disease genes, namely the dystrophin, tafazzin, cardiac actin, desmin, lamin A/C, delta- sarcoglycan, cardiac beta-myosin heavy chain, and cardiac troponin T gene. Certain mutations in lamin A/C cause conduction system disease and dilated cardiomyopathy, whereas other mutations cause in addition skeletal muscle myopathy. Dystrophin mutations are the cause of the rare X-linked dilated cardiomyopathy without skeletal muscle involvement and a progressive course in young men. Other mutations in the dystrophin gene, mainly deletions, are the cause of the muscular dystrophy Becker and Duchenne which also present with dilated cardiomyopathy. Mutations of the desmin, delta-sarcoglycan, the cardiac actin and beta-myosin heavy chain as well as the troponin T gene are known to cause autosomal dominant-dilated cardiomyopathy without other abnormalities. The infantile X-linked DCM is caused by mutations of the tafazzin gene. The onset of the disease is typically within the first year of life and death occurs usually in childhood. Most patients may in addition be characterized by skeletal myopathy, short stature, neutropenia and abnormal mitochondria, also referred to as Barth syndrome. Knowledge of the DCM disease genes led to the new hypothesis that dilated cardiomyopathy is a disease of the myocardial force generation or force transmission. Many more disease loci are known but the responsible disease genes are not yet identified. Better understanding of the expression and function of disease genes may eventually result in new diagnostic and therapeutic tools in order to improve the prognosis of this severe disorder.
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PMID:[Genetics of dilated cardiomyopathy]. 1151 75

Atrial standstill is a rare form of bradyarrhythmia and consists of a transitory or permanent loss of the electrical and mechanical activity of the atria. It has been described in a few cases of long-standing valvular disease, amyloidosis, myocarditis, and muscular dystrophy. We report on a young female with noncompaction cardiomyopathy that progressed to congestive heart failure. Electrocardiogram showed persistence atrial standstill that was confirmed clinically and by electrocardiomyopathy, Doppler two-dimensional echocardiogram, and tissue Doppler imaging. We assume that worsening of asymptomatic noncompaction and progression to the congestive form of cardiomyopathy could be presaged by the presence of persistent atrial standstill. Thus, persistence of atrial standstill in asymptomatic cardiomyopathy is a sign of poor prognosis.
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PMID:Persistent atrial standstill in noncompaction cardiomyopathy. 1656 5

Inherited heart conditions are the most common cause of sudden cardiac death in those under the age of 35 and the leading cause of non-traumatic death in young athletes. Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease affecting 1 in 500 of the population. Some patients may exhibit severe left ventricular hypertrophy, others may show nothing more than an abnormal ECG. Left ventricular hypertrophy most commonly manifests in the second decade of life. Sudden death is rare and usually affects patients in the first three decades whereas older patients present with heart failure, atrial fibrillation and stroke. Arrhythmogenic right ventricular cardiomyopathy is a rare, autosomal dominant heart muscle disorder which affects between 1 in 1,000 and 1 in 5,000 of the population. Dilated cardiomyopathy (DCM) is characterised by a dilated left ventricle with impaired function that cannot be explained by ischaemic heart disease, hypertension or valvular heart disease. At least 25% of cases of DCM are familial. DCM may be associated with multisystem conditions such as muscular dystrophy. Chemotherapy and certain other drugs, alcohol abuse and myocarditis may also lead to a dilated and poorly contracting left ventricle. In many cases the first manifestation of an inherited cardiomyopathy can be a sudden cardiac arrest. Other presentations include chest pain or breathlessness during exertion, palpitations and syncope. In many of the cardiomyopathies, the diagnosis can be made with a standard ECG and echocardiogram. However if the diagnosis is not certain or the cardiologist wishes to look at the heart structure in greater detail, a cardiac MRI may be performed.
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PMID:Diagnosis and management of inherited cardiomyopathies. 2559 Dec 84